|Institutional Source||Beutler Lab|
|Gene Name||discs large MAGUK scaffold protein 5|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7182 (G1)|
|Chromosomal Location||24133953-24245920 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 24244856 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 3 (V3A)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000073687] [ENSMUST00000090398]|
AA Change: V3A
|Coding Region Coverage||
|Validation Efficiency||96% (70/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dlg5||
(F):5'- TTCACAGCAAATCTGGGCG -3'
(R):5'- TCTCTCTGCAGCTCACCAAG -3'
(F):5'- CAGCAAATCTGGGCGAGTTAG -3'
(R):5'- ACCGCTCTACCTGTATGGCG -3'